ATRX and H3C14

Data Source:
BioGRID (unspecified method, x-ray crystallography, x-ray crystallography, unspecified method)

		ATRX	H3C14
Description		ATRX chromatin remodeler	H3 clustered histone 14
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GO Annotations	Cellular Component	Nuclear Chromosome Condensed Chromosome, Centromeric Region Chromosome, Telomeric Region Heterochromatin Nucleus Nucleoplasm Pericentric Heterochromatin Nuclear Body PML Body Chromosome, Subtelomeric Region	Nucleosome Extracellular Region Nucleus Nucleoplasm Extracellular Exosome
	Molecular Function	DNA Binding DNA Helicase Activity Chromatin Binding Protein Binding ATP Binding DNA Translocase Activity Methylated Histone Binding Histone Binding Metal Ion Binding Chromo Shadow Domain Binding	DNA Binding Protein Binding Protein Heterodimerization Activity
	Biological Process	Meiotic Spindle Organization DNA Repair DNA Methylation Nucleosome Assembly DNA Replication-independent Nucleosome Assembly Chromatin Remodeling Regulation Of Transcription, DNA-templated Spermatogenesis Positive Regulation Of Nuclear Cell Cycle DNA Replication DNA Damage Response, Signal Transduction By P53 Class Mediator Forebrain Development Replication Fork Processing Positive Regulation Of Telomere Maintenance DNA Duplex Unwinding Post-embryonic Forelimb Morphogenesis Multicellular Organism Growth Positive Regulation Of Transcription By RNA Polymerase II Sertoli Cell Development Chromosome Organization Involved In Meiotic Cell Cycle Protein Localization To Chromosome, Telomeric Region Seminiferous Tubule Development Cellular Response To Hydroxyurea Regulation Of Histone H3-K9 Trimethylation Negative Regulation Of Telomeric RNA Transcription From RNA Pol II Promoter Positive Regulation Of Telomeric RNA Transcription From RNA Pol II Promoter Negative Regulation Of Maintenance Of Mitotic Sister Chromatid Cohesion, Telomeric	RDNA Heterochromatin Assembly Chromatin Organization Nucleosome Assembly Blood Coagulation Interleukin-7-mediated Signaling Pathway Cellular Protein Metabolic Process Regulation Of Megakaryocyte Differentiation Negative Regulation Of Gene Expression, Epigenetic Regulation Of Gene Silencing By MiRNA
Pathways		Inhibition of DNA recombination at telomere Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations	Interleukin-7 signaling Interleukin-7 signaling Pre-NOTCH Transcription and Translation Formation of the beta-catenin:TCF transactivating complex PRC2 methylates histones and DNA Condensation of Prophase Chromosomes Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) HDACs deacetylate histones PKMTs methylate histone lysines HDMs demethylate histones HATs acetylate histones HATs acetylate histones RMTs methylate histone arginines Chromatin modifying enzymes SIRT1 negatively regulates rRNA expression ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression NoRC negatively regulates rRNA expression NoRC negatively regulates rRNA expression B-WICH complex positively regulates rRNA expression DNA methylation Transcriptional regulation by small RNAs Activation of anterior HOX genes in hindbrain development during early embryogenesis Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Meiotic recombination HCMV Early Events HCMV Late Events Transcriptional regulation of granulopoiesis Amyloid fiber formation Factors involved in megakaryocyte development and platelet production
Drugs
Diseases		Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS) Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX) Non-syndromic X-linked mental retardation 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
GWAS		Platelet count ( 32888494) Plateletcrit ( 32888494)
Interacting Genes		27 interacting genes: ATN1 AURKA BLM CALM1 CCSER2 CEP126 CREBBP DAXX EZH2 H3-3A H3C14 HDAC1 HDAC4 LUC7L2 MDM2 NEK1 NSD1 PTN PTPN4 RAD51 RASSF1 SUMO2 SVIL TP53 WRN ZBED1 ZNF512B	60 interacting genes: ARID4A ATRX AURKB BIRC5 BRD1 BRD4 BRD7 BRPF1 CDCA8 CDK8 CHUK DDB2 DNMT3L EHMT2 ELP3 EP300 HDGFL2 INCENP ING1 JADE1 KAT2A KAT2B KAT5 KAT6A KDM1A KDM2A KDM3A KDM4C KDM6A KMT2A KMT2B KMT2C KMT2D MSL2 NAP1L4 NASP NCOA6 NRDC NSD2 PHF21A PIM1 PKN1 PRMT6 PTMA PWWP3A RBBP4 RBBP5 RERE RNF20 RNF4 RPS6KA5 SETD1A SETD1B SETD7 SMARCA4 SMYD2 STAT6 TBL1X UHRF1 VRK1
Entrez ID		546	126961
HPRD ID		02069	11822
Ensembl ID		ENSG00000085224	ENSG00000203811
Uniprot IDs		A4LAA3 B4DLW1 P46100	Q71DI3
PDB IDs		2JM1 2LBM 2LD1 3QL9 3QLA 3QLC 3QLN 4W5A 5GRQ 5Y18 5Y6O 6G0O	2IIJ 2X4W 2X4X 2X4Y 3AV1 3DB3 3MO8 3QO2 3R93 4MZF 4MZG 4MZH 4OUC 5B0Y 5B0Z 5B40 5BO0 5CIU 5VAC 6ACE 6FML 6T79 6T7A 6T7B 6T7C 6T7D 6X59 6X5A 6XJD 6Y5D 6Y5E 7BQZ 7BU9 7JO9 7JOA
Enriched GO Terms of Interacting Partners?
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